Incidental Mutation 'IGL03173:Pou2f2'
| ID |
411928 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pou2f2
|
| Ensembl Gene |
ENSMUSG00000008496 |
| Gene Name |
POU domain, class 2, transcription factor 2 |
| Synonyms |
Oct-2, Otf2, Oct2c, Oct2d, Otf-2, Oct2a, Oct2b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03173
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24790111-24879292 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 24799371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000147146]
[ENSMUST00000176408]
[ENSMUST00000175774]
|
| AlphaFold |
Q00196 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098679
|
| SMART Domains |
Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
158 |
N/A |
INTRINSIC |
|
POU
|
201 |
275 |
7.65e-52 |
SMART |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
HOX
|
303 |
365 |
3.8e-18 |
SMART |
|
low complexity region
|
392 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108413
|
| SMART Domains |
Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
POU
|
179 |
253 |
7.65e-52 |
SMART |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
HOX
|
281 |
343 |
3.8e-18 |
SMART |
|
low complexity region
|
373 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108415
|
| SMART Domains |
Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
POU
|
195 |
269 |
7.65e-52 |
SMART |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
HOX
|
297 |
359 |
3.8e-18 |
SMART |
|
low complexity region
|
386 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108416
|
| SMART Domains |
Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
97 |
N/A |
INTRINSIC |
|
POU
|
140 |
214 |
7.65e-52 |
SMART |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
HOX
|
242 |
304 |
3.8e-18 |
SMART |
|
low complexity region
|
331 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108417
|
| SMART Domains |
Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
158 |
N/A |
INTRINSIC |
|
POU
|
201 |
275 |
7.65e-52 |
SMART |
|
low complexity region
|
281 |
294 |
N/A |
INTRINSIC |
|
HOX
|
303 |
365 |
3.8e-18 |
SMART |
|
low complexity region
|
392 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108418
|
| SMART Domains |
Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
POU
|
179 |
253 |
7.65e-52 |
SMART |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
HOX
|
281 |
343 |
3.8e-18 |
SMART |
|
low complexity region
|
370 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147146
|
| SMART Domains |
Protein: ENSMUSP00000118307
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
SCOP:d1gkub1
|
89 |
123 |
2e-3 |
SMART |
|
low complexity region
|
134 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176408
|
| SMART Domains |
Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
POU
|
195 |
269 |
7.65e-52 |
SMART |
|
low complexity region
|
275 |
288 |
N/A |
INTRINSIC |
|
HOX
|
297 |
359 |
3.8e-18 |
SMART |
|
low complexity region
|
386 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175774
|
| SMART Domains |
Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
POU
|
179 |
253 |
7.65e-52 |
SMART |
|
low complexity region
|
259 |
272 |
N/A |
INTRINSIC |
|
HOX
|
281 |
343 |
3.8e-18 |
SMART |
|
low complexity region
|
370 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184150
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous inactivation of this locus results in failed B cell maturation and death within hours of birth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2b |
T |
C |
12: 105,624,553 (GRCm39) |
K649E |
possibly damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,512,173 (GRCm39) |
|
probably benign |
Het |
| Cntrob |
C |
T |
11: 69,200,853 (GRCm39) |
A503T |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,710,497 (GRCm39) |
Y170N |
probably damaging |
Het |
| Ddx23 |
T |
C |
15: 98,548,885 (GRCm39) |
I306V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,856,737 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hivep2 |
G |
T |
10: 14,003,726 (GRCm39) |
G108V |
possibly damaging |
Het |
| Irgc |
T |
C |
7: 24,132,727 (GRCm39) |
E30G |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,481,162 (GRCm39) |
Y204C |
probably damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,281,560 (GRCm39) |
L333F |
possibly damaging |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or5an6 |
T |
A |
19: 12,372,410 (GRCm39) |
M261K |
possibly damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,788 (GRCm39) |
C179* |
probably null |
Het |
| Pitpnm3 |
G |
A |
11: 71,983,389 (GRCm39) |
T80I |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,561,089 (GRCm39) |
L518P |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,351,706 (GRCm39) |
T235S |
probably damaging |
Het |
| Ssxa1 |
C |
T |
X: 20,985,224 (GRCm39) |
R41C |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,671,317 (GRCm39) |
N142D |
possibly damaging |
Het |
| Taf3 |
A |
G |
2: 9,957,738 (GRCm39) |
V143A |
probably damaging |
Het |
| Trav13-5 |
T |
C |
14: 54,033,534 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,848,932 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
T |
C |
5: 109,319,645 (GRCm39) |
E445G |
possibly damaging |
Het |
| Zfp663 |
G |
T |
2: 165,194,419 (GRCm39) |
T600K |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,404,651 (GRCm39) |
Q75* |
probably null |
Het |
|
| Other mutations in Pou2f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Pou2f2
|
APN |
7 |
24,792,125 (GRCm39) |
nonsense |
probably null |
|
|
IGL01420:Pou2f2
|
APN |
7 |
24,792,377 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02219:Pou2f2
|
APN |
7 |
24,797,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Pou2f2
|
APN |
7 |
24,796,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Pou2f2
|
UTSW |
7 |
24,796,558 (GRCm39) |
splice site |
probably benign |
|
|
R0347:Pou2f2
|
UTSW |
7 |
24,797,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Pou2f2
|
UTSW |
7 |
24,815,501 (GRCm39) |
nonsense |
probably null |
|
|
R0842:Pou2f2
|
UTSW |
7 |
24,796,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Pou2f2
|
UTSW |
7 |
24,792,149 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1914:Pou2f2
|
UTSW |
7 |
24,799,581 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1915:Pou2f2
|
UTSW |
7 |
24,799,581 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4076:Pou2f2
|
UTSW |
7 |
24,796,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4811:Pou2f2
|
UTSW |
7 |
24,797,111 (GRCm39) |
nonsense |
probably null |
|
|
R4863:Pou2f2
|
UTSW |
7 |
24,796,533 (GRCm39) |
intron |
probably benign |
|
|
R5362:Pou2f2
|
UTSW |
7 |
24,792,320 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5995:Pou2f2
|
UTSW |
7 |
24,796,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Pou2f2
|
UTSW |
7 |
24,793,006 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7541:Pou2f2
|
UTSW |
7 |
24,815,553 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7884:Pou2f2
|
UTSW |
7 |
24,815,489 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8123:Pou2f2
|
UTSW |
7 |
24,796,433 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8416:Pou2f2
|
UTSW |
7 |
24,815,551 (GRCm39) |
nonsense |
probably null |
|
|
R8499:Pou2f2
|
UTSW |
7 |
24,799,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8554:Pou2f2
|
UTSW |
7 |
24,814,981 (GRCm39) |
intron |
probably benign |
|
|
R9122:Pou2f2
|
UTSW |
7 |
24,792,302 (GRCm39) |
missense |
probably benign |
|
|
R9341:Pou2f2
|
UTSW |
7 |
24,794,277 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9343:Pou2f2
|
UTSW |
7 |
24,794,277 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9474:Pou2f2
|
UTSW |
7 |
24,794,247 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9576:Pou2f2
|
UTSW |
7 |
24,796,569 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9578:Pou2f2
|
UTSW |
7 |
24,796,569 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF014:Pou2f2
|
UTSW |
7 |
24,815,162 (GRCm39) |
missense |
unknown |
|
|
Z1177:Pou2f2
|
UTSW |
7 |
24,792,601 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation